(Q34149506)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21073448%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

CEDNIK syndrome results from loss-of-function mutations in SNAP29 (English)

1 reference

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16 January 2020

1 reference

9

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16 January 2020

author name string

D Fuchs-Telem

1

1 reference

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16 January 2020

H Stewart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21073448%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

D Rapaport

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21073448%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

J Nousbeck

4

1 reference

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16 January 2020

A Gat

5

1 reference

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16 January 2020

M Gini

6

1 reference

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16 January 2020

Y Lugassy

7

1 reference

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16 January 2020

S Emmert

8

1 reference

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16 January 2020

H C Hennies

10

1 reference

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16 January 2020

O Sarig

11

1 reference

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16 January 2020

D Goldsher

12

1 reference

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16 January 2020

B Meilik

13

1 reference

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16 January 2020

A Ishida-Yamamoto

14

1 reference

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16 January 2020

M Horowitz

15

1 reference

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16 January 2020

E Sprecher

16

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16 January 2020

language of work or name

English

0 references

publication date

17 February 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21073448%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

16 January 2020

published in

1 reference

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16 January 2020

volume

164

1 reference

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16 January 2020

issue

3

1 reference

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16 January 2020

page(s)

610-616

1 reference

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A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

16 January 2020

cites work

1 reference

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For better or for worse: complexins regulate SNARE function and vesicle fusion

21 January 2018

1 reference

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The cornified envelope: a model of cell death in the skin

21 January 2018

1 reference

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New insights into membrane trafficking and protein sorting.

21 January 2018

1 reference

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Coats, tethers, Rabs, and SNAREs work together to mediate the intracellular destination of a transport vesicle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10133.X

Three novel proteins of the syntaxin/SNAP-25 family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10133.X

An update on molecular aspects of the non-syndromic ichthyoses

21 January 2018

1 reference

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Barrier function of the skin: "la raison d'être" of the epidermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10133.X

Loss of SNAP29 impairs endocytic recycling and cell motility

21 January 2018

1 reference

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Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome

21 January 2018

1 reference

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The SNARE protein SNAP-29 interacts with the GTPase Rab3A: Implications for membrane trafficking in myelinating glia

21 January 2018

1 reference

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Association of insulin-like growth factor 1 receptor with EHD1 and SNAP29

21 January 2018

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Spatial regulation of Raf kinase signaling by RKTG

21 January 2018

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Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis

21 January 2018

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A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro

21 January 2018

1 reference

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Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro

21 January 2018

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Ichthyosis: etiology, diagnosis, and management

21 January 2018

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Molecular genetics of the ichthyoses

21 January 2018

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Epidermal lamellar granules transport different cargoes as distinct aggregates

21 January 2018

1 reference

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Membrane fusion: SNAREs and regulation

21 January 2018

1 reference

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SNAP-29-mediated modulation of synaptic transmission in cultured hippocampal neurons

21 January 2018

1 reference

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GS32, a novel Golgi SNARE of 32 kDa, interacts preferentially with syntaxin 6

21 January 2018

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LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum

21 January 2018

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Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms

21 January 2018

1 reference

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Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

21 January 2018

1 reference

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Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

21 January 2018

1 reference

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